ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1638G>A (p.Pro546=)

gnomAD frequency: 0.00025  dbSNP: rs138352399
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437925 SCV000527328 likely benign not specified 2016-12-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000537619 SCV000652913 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-10-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002062787 SCV002498071 likely benign not provided 2022-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270340 SCV002555379 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270341 SCV002555380 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002393003 SCV002703035 likely benign Inborn genetic diseases 2018-03-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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